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SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review

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Abstract

C19orf12 gene biallelic mutations lead mainly to neurodegeneration with brain iron accumulation-4. A 15-year-old male and his 17-year-old sister complained of cramps and exercise intolerance. Clinical examination of the boy mainly showed distal amyotrophy and mild weakness, while the sister predominantly had a tetrapyramidal syndrome. Widespread chronic neurogenic signs and hypointense signals on the striatum were present in both patients. Clinical exome sequencing identified, on both patients, the compound heterozygous pathogenic mutations c.204_214del p.(Gly69ArgfsTer10) and c.32C>T p.(Thr11Met). The description of these rare SPG43 and ALS-like phenotypes in the same family contributes to improve genotype-phenotype correlation in C19orf12-related diseases.

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Acknowledgments

Acknowledgments are given to the patients and their family to collaborate for the present study.

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Authors and Affiliations

  1. Centre de Référence Neuromusculaire, Department of Neurology, Cliniques Universitaires de Bruxelles, Hôpital Erasme, Université libre de Bruxelles (ULB), Route de Lennik 808, 1070, Brussels, Belgium

    Gauthier Remiche

  2. Department of Genetics, Cliniques Universitaires de Bruxelles, Hôpital Erasme, Université libre de Bruxelles (ULB), Route de Lennik 808, 1070, Brussels, Belgium

    Isabelle Vandernoot & Laurence Desmyter

  3. Department of Radiology, Cliniques Universitaires de Bruxelles, Hôpital Erasme, Université libre de Bruxelles (ULB), Route de Lennik 808, 1070, Brussels, Belgium

    Niloufar Sadeghi-Meibodi

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  1. Gauthier Remiche
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Remiche, G., Vandernoot, I., Sadeghi-Meibodi, N. et al. SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review. Neurogenetics 22, 95–101 (2021). https://doi.org/10.1007/s10048-020-00631-4

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